Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C0302129
Disease: Achromatopsia 1
Achromatopsia 1
disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 20 14 0.100 None 0.971 34 2000 2020
CUI: C0009398
Disease: Color vision defect
Color vision defect
phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 94 4 0.420 None 1.000 3 2004 2018
CUI: C0155015
Disease: Color Blindness, Red
Color Blindness, Red
disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 9 1 0.300 None 1.000 1 2018 2018
CUI: C0155017
Disease: Color Blindness, Blue
Color Blindness, Blue
disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 25 12 0.300 None 1.000 1 2018 2018
CUI: C0155018
Disease: Color Blindness, Acquired
Color Blindness, Acquired
disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 5 0.300 None 1.000 1 2018 2018
CUI: C0239777
Disease: Color Blindness, Green
Color Blindness, Green
phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 5 0.300 None 1.000 1 2018 2018
CUI: C0242225
Disease: Color blindness
Color blindness
disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 33 4 0.300 None 1.000 1 2018 2018
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
disease Eye Diseases Disease or Syndrome 685 663 0.110 None 1.000 1 2005 2005
Progressive cone dystrophy (without rod involvement)
disease Eye Diseases Disease or Syndrome 9 6 0.300 None 1.000 1 2004 2004
CUI: C0271093
Disease: Stargardt's disease
Stargardt's disease
phenotype Disease or Syndrome 45 24 0.500 None 1.000 1 2005 2005
CUI: C1720983
Disease: Channelopathies
Channelopathies
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 94 8 0.010 None 1.000 1 2007 2007
CUI: C0877104
Disease: Retinal toxicity
Retinal toxicity
disease Anatomical Abnormality 12 0.010 None 1.000 1 2017 2017
CUI: C0751043
Disease: Monochromatopsia
Monochromatopsia
phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 5 0.300 None 1.000 1 2018 2018
CUI: C0751042
Disease: Color Blindness, Inherited
Color Blindness, Inherited
disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 5 0.300 None 1.000 1 2018 2018
CUI: C0155016
Disease: Color Blindness, Red-Green
Color Blindness, Red-Green
disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 24 0.300 None 1.000 1 2018 2018
CUI: C0154870
Disease: Focal chorioretinitis
Focal chorioretinitis
disease Eye Diseases Disease or Syndrome 1 0.010 None < 0.001 1 2017 2017
CUI: C0730362
Disease: Disorder of macula of retina
Disorder of macula of retina
group Eye Diseases Disease or Syndrome 49 24 0.010 None 1.000 1 2007 2007
CUI: C4282180
Disease: Juvenile macular degeneration
Juvenile macular degeneration
disease Disease or Syndrome 5 0.510 strong < 0.001 1 2005 2005
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases
group Eye Diseases Disease or Syndrome 714 56 0.010 None 1.000 1 2018 2018
CUI: C0024437
Disease: Macular degeneration
Macular degeneration
disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 44 16 0.010 None 1.000 1 2005 2005
CUI: C4025836
Disease: Abnormal choroid morphology
Abnormal choroid morphology
disease Anatomical Abnormality 12 1 0.100 None 0
Paroxysmal involuntary eye movements
phenotype Finding 39 2 0.100 None 0
CUI: C1840457
Disease: Retinal pigment epithelial atrophy
Retinal pigment epithelial atrophy
phenotype Finding 25 4 0.100 None 0
Macular dystrophy, concentric annular
phenotype Eye Diseases Finding 6 5 0.100 None 0
CUI: C4025849
Disease: Abnormal foveal morphology
Abnormal foveal morphology
disease Anatomical Abnormality 5 0.100 None 0